Canonical Allele Identifier: CA347482902
Community Standard Title: NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter)
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85550652G>A , CM000664.2:g.85550652G>A GRCh38
NC_000002.11:g.85777775G>A , CM000664.1:g.85777775G>A GRCh37
NC_000002.10:g.85631286G>A NCBI36
NG_011811.2:g.15883C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000821.7:c.1987C>T MANE Select NP_000812.2:p.Gln663Ter
ENST00000233838.9:c.1987C>T MANE Select ENSP00000233838.3:p.Gln663Ter
NM_000821.5:c.1987C>T NP_000812.2:p.Gln663Ter
NM_000821.6:c.1987C>T NP_000812.2:p.Gln663Ter
NM_001142269.2:c.1816C>T NP_001135741.1:p.Gln606Ter
NM_001142269.3:c.1816C>T NP_001135741.1:p.Gln606Ter
NM_001142269.4:c.1816C>T NP_001135741.1:p.Gln606Ter
ENST00000233838.8:c.1987C>T ENSP00000233838.3:p.Gln663Ter
ENST00000430215.7:c.1816C>T ENSP00000408045.3:p.Gln606Ter
ENST00000465637.5:n.179-2648C>T
ENST00000473665.2:n.6465C>T
ENST00000482662.2:n.4872C>T
ENST00000685865.1:n.3025C>T
ENST00000687250.1:n.2518C>T
ENST00000687995.1:n.2339C>T
ENST00000688205.1:c.*1580C>T ENSP00000509673.1:n.*1580C>T
ENST00000688788.1:n.2226C>T
ENST00000689276.1:c.1918C>T ENSP00000510012.1:p.Gln640Ter
ENST00000689576.1:c.*606C>T ENSP00000508712.1:n.*606C>T
ENST00000690108.1:c.*1643C>T ENSP00000510617.1:n.*1643C>T
ENST00000690468.1:c.*539C>T ENSP00000509078.1:n.*539C>T
ENST00000690595.1:c.1312C>T ENSP00000508979.1:p.Gln438Ter
ENST00000691348.1:c.*539C>T ENSP00000509369.1:n.*539C>T
ENST00000691410.1:c.*1564C>T ENSP00000508479.1:n.*1564C>T
ENST00000693287.1:c.1303C>T ENSP00000510264.1:p.Gln435Ter
ENST00000693354.1:n.671C>T
ENST00000693681.1:c.1300C>T ENSP00000510789.1:p.Gln434Ter
XM_005264259.3:c.1981C>T XP_005264316.1:p.Gln661Ter
XM_005264259.5:c.1981C>T XP_005264316.1:p.Gln661Ter
XM_011532764.1:c.1165C>T XP_011531066.1:p.Gln389Ter
XM_011532764.3:c.1165C>T XP_011531066.1:p.Gln389Ter
XM_011532765.1:c.1165C>T XP_011531067.1:p.Gln389Ter
XM_011532765.3:c.1165C>T XP_011531067.1:p.Gln389Ter
XM_017003803.2:c.1810C>T XP_016859292.1:p.Gln604Ter
XR_001738703.2:n.1900C>T